Open AccessNovel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family
Author(s) -
Xin Jin,
Linghui Qu,
Baoke Hou,
Haiwei Xu,
Xiaohong Meng,
ChiPui Pang,
Zhengqin Yin
Publication year - 2016
Publication title -
bioscience reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.938
H-Index - 77
eISSN - 1573-4935
pISSN - 0144-8463
DOI - 10.1042/bsr20150131
Subject(s) - retinitis pigmentosa , sanger sequencing , compound heterozygosity , biology , genetics , mutation , retinal degeneration , mutant , gene , phenotype , microbiology and biotechnology
A novel compound mutation in CNGA1 gene, coding for the cGMP-gated ion channel protein, results in a protein product that is not targeted to the plasma membrane, which would be deleterious to rod photoreceptors leading to retinitis pigmentosa (RP).
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